Annotation Detail
Information
- Associated Genes
- TNNI3
- Associated Variants
-
TNNI3 p.Lys178Glu (p.K178E)
(
ENST00000344887.10,
ENST00000588882.1,
ENST00000665070.1,
ENST00000714236.1,
ENST00000714237.1,
ENST00000714238.1,
ENST00000714240.1 )
TNNI3 p.Lys178Glu (p.K178E) ( ENST00000344887.10, ENST00000588882.1, ENST00000665070.1, ENST00000714236.1, ENST00000714237.1, ENST00000714238.1, ENST00000714240.1 ) - Associated Disease
- Cardiomyopathy, familial restrictive, 1
- Source Database
- ClinVar
- Description
- NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu) AND Cardiomyopathy, familial restrictive, 1
- ClinVar Allele ID
- 27464
- ClinVar RefSeq Alternation Syntax
- NM_000363.5:c.532A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2003-01-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013238
- ClinVar Disease
- Cardiomyopathy, familial restrictive, 1
- Observed Origin Sample
- germline
- Pubmed
- 10098965
- Pubmed
- 12531876
Drugs